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Varun Warrier @vw1234.bsky.social · 8d

And an article for the general public by @universitypress.cambridge.org

www.cam.ac.uk/research/new...

Study reveals genetic and developmental differences in people with earlier versus later autism diagnosis

Researchers find different genetic profiles related to two trajectories that autistic children tend to follow. One linked to early diagnosis, and communication

www.cam.ac.uk

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Varun Warrier @vw1234.bsky.social · 8d

And a very helpful and informative commentary on the paper by @tuckerdrob.bsky.social www.nature.com/articles/d41...

Early- and late-diagnosed autism are genetically distinct

Analyses of symptoms and genomic data indicate that autism that manifests in early childhood is distinct from autism that is diagnosed later in development.

www.nature.com

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Varun Warrier @vw1234.bsky.social · 8d

This was a fantastic collaboration with lots of people including @hilarycmartin.bsky.social @jakobgrove.bsky.social, Experts by Experience, and several others who I can't seem to find on this app.

Article: www.nature.com/articles/s41...

Polygenic and developmental profiles of autism differ by age at diagnosis - Nature

A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

www.nature.com

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Varun Warrier @vw1234.bsky.social · 8d

I add that earlier and later diagnosed autism are not valid diagnostic terms and what we are looking at is (one) gradient. Also genetics explains only a fraction of the variance, with most studied factors explaining < 10%. We have FAQs in the Supplementary where we address common questions.

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Varun Warrier @vw1234.bsky.social · 8d

Furthermore, the later diagnosed autism genetic factor is genetically more correlated with ADHD, depression, and PTSD, suggested complex gene-environment correlations and an urgent need for support.

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Varun Warrier @vw1234.bsky.social · 8d

In work led by the talented Xinhe Zhang out today in Nature, we challenge this idea. We show the developmental and genetic profile of autism differs substantially by age at diagnosis. Later diagnosed autism is not a milder version, but a different version who need acceptance and support.

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Varun Warrier @vw1234.bsky.social · 8d

It is now clear that more people are being diagnosed as autistic in their teens and as adults than in childhood. A prevailing theory is that those diagnosed later have "milder" form of autism, and later diagnosis entirely due to social factors.

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Reposted by Varun Warrier

Andrea Ganna @andganna.bsky.social · 10d

🧬💥 Do the genetics that make you develop a disease also help you survive it? Not much.

Our new study in Nature Genetics including 9 disease and 7 biobanks shows:

• Susceptibility variants ≠ survival
• PRSs for onset weak at predicting progression
• Lifespan PRS predicts survival better

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Reposted by Varun Warrier

Emmanuel A Stamatakis @estamatakis.bsky.social · 15d

We are delighted to announce the launch of a new Master's Programme in Brain Health and Disease within the Department of Clinical Neurosciences at the University of Cambridge.

Applications are now open!

@camneurodept.bsky.social

www.clinical-neuroscience.cam.ac.uk/education/ta...

Taught MPhil in Brain Health and Disease | Clinical Neurosciences

Our one-year Master’s programme in Brain Health and Disease: Clinical Neurosciences offers an exceptional opportunity for students to engage with the forefront of clinical neuroscience through a dynam...

www.clinical-neuroscience.cam.ac.uk

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Varun Warrier @vw1234.bsky.social · 17d

Ah yes, of course! I agree :)

Varun Warrier @vw1234.bsky.social · 17d

Although, there is a lot of genetic confounding with parental age associations: increased genetic likelihood for autism -> finding a partner later in life -> having children later in life.

www.nature.com/articles/s41...

pubmed.ncbi.nlm.nih.gov/27213288/

Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations - PubMed

The offspring of older fathers have higher risk of psychiatric disorders such as schizophrenia and autism. Paternal-age-related de novo mutations are widely assumed to be the underlying causal mechani...

pubmed.ncbi.nlm.nih.gov

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Varun Warrier @vw1234.bsky.social · 17d

We have an opening for a research assistant/associate to study the genetics of neurodevelopmental traits in the general population, and explore their overlap with neurodevelopmental diagnoses. Funds available until Jan 2027.

lnkd.in/eHEcccwC

Please circulate widely.

This link will take you to a page that’s not on LinkedIn

lnkd.in

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Reposted by Varun Warrier

Yun S. Song @yun-s-song.bsky.social · 18d

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics.
www.biorxiv.org/content/10.1...
(1/n)

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Reposted by Varun Warrier

Armin Raznahan @bogglerapture.bsky.social · Aug 23

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Varun Warrier @vw1234.bsky.social · Aug 23

Very nice method that exploits collider bias to identify independent contributors to outcomes.

John Belmont @jwbelmon.bsky.social · Aug 19

Causal Pivot is an idea that comes from differential diagnosis in medical practice www.sciencedirect.com/science/arti... Chad Shaw and I drew DAGs for molecular diagnosis and gene discovery. He saw an opportunity to exploit collider bias in an interesting way.

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases

We present the Causal Pivot (CP) as a structural causal model (SCM) for analyzing genetic heterogeneity in complex diseases. The CP leverages an estab…

www.sciencedirect.com

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Reposted by Varun Warrier

Steve Smith @fmrib-steve.bsky.social · Aug 22

Latest processing of UK Biobank brain imaging data - now with 82,000 usable first-scan datasets. Correlating brain IDPs with 13,000 non-imaging variables gives a rich manhattan-stye plot. 324,000 Bonferroni-significant associations.

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Reposted by Varun Warrier

Nicky Whiffin @nickywhiffin.bsky.social · Aug 18

Isn't genetics cool???

Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)

🤯🤓🧬❤️

Schematic of the U4 and U6 snRNAs with coloured annotations to note nucleotides linked to different disorders:
- Teal in the T-loop and Stem III for ReNU syndrome (Chen et al. Nature 2024 and Greene et al. Nature Medicine 2024)
- Red for variants causing a recessive NDD in Stem II, the k-turn and Sm protein binding sites (De Jonghe et al. medRxiv 2025 and Rius & Blakes medRxiv 2025)
- Yellow for the central loop and Retinitis pigmentosa (Quinodoz et al. medRxiv 2025)

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Reposted by Varun Warrier

Michael Love @mikelove.bsky.social · Aug 18

Excited to share this preprint from first author Jon Rosen, a postdoctoral fellow in the @klmohlke.bsky.social lab and my lab. We examine eQTL study sample size and how this affects signal discovery and rates of colocalization with GWAS.

www.biorxiv.org/content/10.1...

Higher eQTL power reveals signals that boost GWAS colocalization

Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...

www.biorxiv.org

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Reposted by Varun Warrier

Alex Fornito @alexfornito.bsky.social · Aug 17

Interested in Network hubs, cortical hierarchies, and gradients? Ever wonder where they come from? Check our latest review, where we cover different approaches to mapping hubs, models for their evolution, and mechanisms for how they develop:

osf.io/preprints/os...

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Reposted by Varun Warrier

Mental Health Platform @mhplatform.bsky.social · Aug 12

ECR Workshop: Proteomics & Mental Health 🧠
9 Oct | Edinburgh | £25

Hosted by @mqmentalhealth.bsky.social & @datamind.bsky.social in partnership with MHP.

Meet the Speakers! Programme & bios online – register: rebrand.ly/ecr-workshop

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Reposted by Varun Warrier

Itai Yanai @itaiyanai.bsky.social · Aug 9

Science doesn’t need to be pretty and go according to plan; it just needs to lead to a discovery. If doesn’t have to be done alone or together with someone else; there just needs to be a discovery. It doesn’t need to happen fast or slow; just as long as there’s a discovery, then everybody is happy.

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Reposted by Varun Warrier

Hans Fredrik Sunde @hfsunde.bsky.social · Aug 4

Our new paper is out today! 🎉 In it, we use administrative register data to document how psychiatric disorders are strongly linked to parental income, from childhood far into adulthood. Furthermore, we attempt to separate causation and selection using kinship-based models.
doi.org/10.1111/jcpp...

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Reposted by Varun Warrier

Awais Aftab @awaisaftab.bsky.social · Jul 19

Psychiatric Genetics Beyond Heritability: Q&A with Michel Nivard ( @michelnivard.bsky.social )

“We look for genes as a means to an end—biology, epidemiology, and etiology of complex human outcomes.”

www.psychiatrymargins.com/p/psychiatri...

Psychiatric Genetics Beyond Heritability: Q&A with Michel Nivard

We look for genes as a means to an end—biology, epidemiology, and etiology of complex human outcomes.

www.psychiatrymargins.com

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Reposted by Varun Warrier

Tabea Schoeler @tabeasch.bsky.social · Jul 8

🚨New preprint is out!

How do genetic effects on complex traits change with age? In this work, we compare different approaches to obtain age-varying genetic effects, and show how design and modeling choices can impact the conclusions we draw.
shorturl.at/17snd
A thread 🧵👇

Design and model choices shape inference of age-varying genetic effects on complex traits

Understanding how genetic influences on complex traits change with age is a fundamental question in genetic epidemiology. Both cross-sectional (between-subject) and longitudinal (within-subject) appro...

shorturl.at

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Reposted by Varun Warrier

Joanna @drjmartin.bsky.social · Jul 8

New pre-print! ✨ Antecedents and outcomes of a late ADHD diagnosis in females: www.medrxiv.org/content/10.1...

TLDR: This study finds evidence that a delay in ADHD diagnosis has profound and clear consequences by adolescence and this disproportionately disadvantages females (people who are AFAB).

Antecedents and outcomes of a late attention deficit hyperactivity disorder (ADHD) diagnosis in females

Females receive an attention deficit hyperactivity disorder (ADHD) diagnosis at an older age than males. We examined the antecedents and outcomes of later (age 12+) diagnosis in females using data fro...

www.medrxiv.org

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